Mutagenetix > Incidental Mutation

Incidental Mutation 'R0674:Adar'

218573

Institutional Source

Beutler Lab

Gene Symbol

Adar

Ensembl Gene

ENSMUSG00000027951

Gene Name

adenosine deaminase, RNA-specific

Synonyms

Adar1p150, ADAR1, mZaADAR, Adar1p110

MMRRC Submission

038859-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0674 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

89715022-89753446 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 89749823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029562] [ENSMUST00000029563] [ENSMUST00000098924] [ENSMUST00000107405] [ENSMUST00000118341] [ENSMUST00000121094] [ENSMUST00000200558]

AlphaFold

Q99MU3

Predicted Effect

probably benign
Transcript: ENSMUST00000029562

SMART Domains

Protein: ENSMUSP00000029562
Gene: ENSMUSG00000027950

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	29	234	5.6e-75	PFAM
Pfam:Neur_chan_memb	241	477	1.7e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000029563

SMART Domains

Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951

Domain	Start	End	E-Value	Type
Zalpha	134	203	8.97e-30	SMART
Zalpha	244	312	7.69e-29	SMART
low complexity region	322	337	N/A	INTRINSIC
low complexity region	347	359	N/A	INTRINSIC
DSRM	457	523	3.6e-21	SMART
DSRM	568	634	4.36e-20	SMART
DSRM	676	742	1.58e-17	SMART
ADEAMc	762	1145	3.74e-205	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098924

SMART Domains

Protein: ENSMUSP00000096525
Gene: ENSMUSG00000027951

Domain	Start	End	E-Value	Type
Zalpha	1	64	3.1e-24	SMART
low complexity region	74	89	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
DSRM	209	275	3.6e-21	SMART
DSRM	320	386	4.36e-20	SMART
DSRM	428	494	1.58e-17	SMART
low complexity region	515	526	N/A	INTRINSIC
ADEAMc	540	923	3.74e-205	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107405

SMART Domains

Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951

Domain	Start	End	E-Value	Type
Zalpha	134	203	8.97e-30	SMART
Zalpha	244	312	7.69e-29	SMART
low complexity region	322	337	N/A	INTRINSIC
low complexity region	347	359	N/A	INTRINSIC
DSRM	457	523	3.6e-21	SMART
DSRM	568	634	4.36e-20	SMART
DSRM	676	742	1.58e-17	SMART
low complexity region	763	774	N/A	INTRINSIC
ADEAMc	788	1171	3.74e-205	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118341

SMART Domains

Protein: ENSMUSP00000113453
Gene: ENSMUSG00000027951

Domain	Start	End	E-Value	Type
DSRM	50	116	4.36e-20	SMART
DSRM	158	224	1.58e-17	SMART
low complexity region	245	256	N/A	INTRINSIC
ADEAMc	270	653	3.74e-205	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121094

SMART Domains

Protein: ENSMUSP00000112969
Gene: ENSMUSG00000027951

Domain	Start	End	E-Value	Type
DSRM	50	116	4.36e-20	SMART
DSRM	158	224	1.58e-17	SMART
ADEAMc	244	627	3.74e-205	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131030

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199372

Predicted Effect

probably benign
Transcript: ENSMUST00000200558

SMART Domains

Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Neur_chan_LBD	29	234	1.5e-71	PFAM
Pfam:Neur_chan_memb	241	454	4.8e-61	PFAM
low complexity region	657	666	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.3%
20x: 90.4%

Validation Efficiency

97% (124/128)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice die during gestation. Inactivation of this locus has been associated with increased apoptosis and, in some lines, defects in both primitive and definitive hematopoiesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,044,626	V1134E	possibly damaging	Het
Adgrl2	A	T	3: 148,837,679	M803K	possibly damaging	Het
Atp13a5	T	C	16: 29,248,350		probably benign	Het
Atp2a3	T	C	11: 72,981,885	I753T	probably damaging	Het
Bace2	G	A	16: 97,436,749	V467M	possibly damaging	Het
Ccser2	A	G	14: 36,918,591	C11R	possibly damaging	Het
Cd2ap	T	A	17: 42,845,392	I85F	possibly damaging	Het
Cd2bp2	C	T	7: 127,194,836	E94K	probably damaging	Het
Chrna3	C	A	9: 55,015,172	A451S	probably damaging	Het
Cmya5	C	A	13: 93,092,791	V1930F	probably damaging	Het
Csmd1	T	C	8: 16,000,550	T2229A	probably benign	Het
Csrnp2	A	T	15: 100,487,991	L122H	probably damaging	Het
Cyp11b2	G	A	15: 74,855,544	P96L	probably damaging	Het
Ddr1	G	T	17: 35,689,669	S368*	probably null	Het
E2f1	T	C	2: 154,564,109	K115E	probably damaging	Het
Erlec1	A	T	11: 30,935,073		probably benign	Het
Fus	T	A	7: 127,972,776		probably benign	Het
Gml	G	A	15: 74,813,860	T92I	probably damaging	Het
Herc1	T	C	9: 66,501,192	S4567P	probably damaging	Het
Iglc2	A	G	16: 19,198,841	S5P	probably benign	Het
Itgam	T	C	7: 128,116,218	V1028A	possibly damaging	Het
Krt222	T	A	11: 99,236,260	N178I	probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Luzp1	C	T	4: 136,543,457	T997I	possibly damaging	Het
Maml1	G	T	11: 50,258,058	Q952K	probably benign	Het
Map2	A	G	1: 66,413,202	E499G	probably damaging	Het
Map4k4	A	T	1: 40,003,815	H118L	probably damaging	Het
Myzap	T	C	9: 71,515,144	D382G	probably damaging	Het
Naip5	T	C	13: 100,223,199	T510A	probably benign	Het
Nek6	G	C	2: 38,558,904	G95R	possibly damaging	Het
Nphp3	T	C	9: 104,036,282		probably null	Het
Nr1d2	T	C	14: 18,215,086	S309G	probably benign	Het
Nrcam	A	T	12: 44,564,322	I570F	probably benign	Het
Oas1d	T	C	5: 120,919,986	I331T	probably benign	Het
Olfr1306	A	T	2: 111,912,673	F86I	probably benign	Het
Olfr65	T	C	7: 103,907,255	V272A	probably benign	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Pex5l	A	T	3: 32,952,616	W535R	probably damaging	Het
Pisd	C	T	5: 32,774,437	R202H	probably benign	Het
Plxna2	A	G	1: 194,649,475	N403S	probably benign	Het
Prdm12	A	G	2: 31,643,912	I180M	probably benign	Het
Prpf6	A	G	2: 181,631,974	T304A	probably benign	Het
Ptprm	G	A	17: 67,191,341	T35I	possibly damaging	Het
Ptx3	T	A	3: 66,224,727	I223N	probably damaging	Het
Pygb	G	A	2: 150,815,134		probably null	Het
Qrsl1	A	G	10: 43,896,001		probably benign	Het
Rad51ap2	T	C	12: 11,458,817		probably null	Het
Ralbp1	C	T	17: 65,852,753	R505H	probably benign	Het
Rimbp3	T	C	16: 17,212,737	S1342P	probably benign	Het
Slc22a14	C	A	9: 119,178,542	R267L	probably damaging	Het
Slco6c1	T	A	1: 97,104,773		probably benign	Het
Tcp1	T	C	17: 12,923,244	I375T	probably damaging	Het
Tiparp	T	C	3: 65,553,165	I525T	probably benign	Het
Tjp2	A	G	19: 24,131,316	L144P	probably benign	Het
Tssk2	A	G	16: 17,899,066	D111G	probably benign	Het
Ttn	T	C	2: 76,945,479	T1740A	possibly damaging	Het
Vmn2r102	T	A	17: 19,677,867	D381E	probably benign	Het
Vsig10	C	T	5: 117,343,846	T367M	probably damaging	Het
Wnt11	T	C	7: 98,846,528	C80R	probably damaging	Het
Zar1	T	A	5: 72,580,300		probably null	Het
Zfp52	A	T	17: 21,561,846	H652L	probably damaging	Het
Zpr1	T	A	9: 46,275,449	L194Q	probably damaging	Het

Other mutations in Adar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Adar	APN	3	89730840	critical splice donor site	probably null
IGL01743:Adar	APN	3	89745440	nonsense	probably null
IGL01982:Adar	APN	3	89738090	missense	probably benign	0.03
Derrick	UTSW	3	89736167	missense	probably damaging	1.00
Hellfire	UTSW	3	89747575	missense	probably damaging	1.00
logimen	UTSW	3	89730814	missense	probably benign	0.04
red	UTSW	3	89750651	missense	probably damaging	1.00
R0153:Adar	UTSW	3	89730814	missense	probably benign	0.04
R0464:Adar	UTSW	3	89735582	missense	possibly damaging	0.90
R0762:Adar	UTSW	3	89739983	splice site	probably benign
R1567:Adar	UTSW	3	89735781	missense	probably benign	0.19
R1807:Adar	UTSW	3	89734865	missense	probably benign	0.00
R1858:Adar	UTSW	3	89739282	missense	probably benign	0.01
R1964:Adar	UTSW	3	89745895	missense	probably benign	0.23
R2440:Adar	UTSW	3	89734854	missense	possibly damaging	0.86
R3731:Adar	UTSW	3	89746655	missense	probably damaging	0.99
R3854:Adar	UTSW	3	89736258	missense	probably damaging	1.00
R4005:Adar	UTSW	3	89749787	missense	probably damaging	1.00
R4105:Adar	UTSW	3	89740094	missense	probably benign	0.00
R4693:Adar	UTSW	3	89735940	missense	probably damaging	1.00
R4980:Adar	UTSW	3	89730814	missense	probably benign	0.04
R5096:Adar	UTSW	3	89747291	makesense	probably null
R5199:Adar	UTSW	3	89745944	missense	probably damaging	1.00
R5397:Adar	UTSW	3	89735319	missense	probably benign
R5406:Adar	UTSW	3	89736111	missense	probably damaging	1.00
R5411:Adar	UTSW	3	89739212	missense	probably benign	0.39
R5446:Adar	UTSW	3	89740179	missense	probably damaging	1.00
R5660:Adar	UTSW	3	89735594	missense	probably damaging	1.00
R5724:Adar	UTSW	3	89735169	missense	probably benign
R6087:Adar	UTSW	3	89745590	missense	probably benign	0.05
R6935:Adar	UTSW	3	89747218	missense	probably benign	0.00
R7644:Adar	UTSW	3	89745519	missense	probably benign	0.00
R7893:Adar	UTSW	3	89750651	missense	probably damaging	1.00
R8018:Adar	UTSW	3	89747575	missense	probably damaging	1.00
R8053:Adar	UTSW	3	89747285	missense	probably damaging	1.00
R8353:Adar	UTSW	3	89750262	missense	possibly damaging	0.92
R8424:Adar	UTSW	3	89735994	missense	probably damaging	1.00
R8466:Adar	UTSW	3	89751159	missense	probably damaging	1.00
R8694:Adar	UTSW	3	89735643	missense	probably damaging	1.00
R8791:Adar	UTSW	3	89736138	missense	probably benign	0.08
R8960:Adar	UTSW	3	89740209	missense	probably damaging	1.00
R9022:Adar	UTSW	3	89735738	missense	probably benign	0.13
R9108:Adar	UTSW	3	89736167	missense	probably damaging	1.00
R9320:Adar	UTSW	3	89751061	nonsense	probably null
R9599:Adar	UTSW	3	89747209	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- CAACTCTAATGCAGGGGAAGGCAC -3'
(R):5'- AAGACTCAAGGCTCTAGGTCAGGC -3'

Sequencing Primer
(F):5'- ACAATTCCTGTGGAGTCCAG -3'
(R):5'- CACAAGAGCGAGGCTCCAG -3'

Posted On

2014-08-18